I7M (p.Ile7Met) variant of STAG2 (Cohesin subunit SA-2)
I7M (p.Ile7Met) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- gnomAD X-124022648-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- CADD 19.70
- PolyPhen-2 0.05
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available